Comprehensive interpretation of single-nucleotide substitutions in GJB2 reveals the genetic and phenotypic landscape of GJB2-related hearing loss

Autor: Jiale Xiang, Xiangzhong Sun, Nana Song, Sathishkumar Ramaswamy, Ahmad N. Abou Tayoun, Zhiyu Peng
Rok vydání: 2022
Předmět:
Zdroj: Human Genetics. 142:33-43
ISSN: 1432-1203
0340-6717
Popis: Genetic variants in GJB2 are the most frequent cause of congenital and childhood hearing loss worldwide. The purpose of this study was to delineate the genetic and phenotypic landscape of GJB2 SNV variants. All possible single-nucleotide substitution variants of the coding region of GJB2 (N = 2043) were manually curated following the ACMG/AMP hearing loss guidelines. As a result, 60 (2.9%), 177 (8.7%), 1499 (73.4%), 301 (14.7%) and 6 (0.3%) of the variants were classified as pathogenic, likely pathogenic, variant of uncertain significance, likely benign, and benign, respectively. 53% (84/158) of the pathogenic/likely pathogenic missense variants were not present in ClinVar. The second transmembrane domain and the 3
Databáze: OpenAIRE
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